Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, BCKDHB

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, BCKDHB

Definition : Molecular assay reagents intended to identify mutations in the branched-chain keto-acid dehydrogenase E1, beta polypeptide (BCKDHB) gene, located at chromosome 6q13-q15, which encodes for the E1-beta subunit of the branched-chain alpha-keto acid (BCAA) dehydrogenase complex. This enzyme is responsible for one step in the breakdown of three amino acids: leucine, isoleucine, and valine; the breakdown products of these amino acids are used for energy. Mutations at this locus have been identified in patients with early-onset maple syrup urine disease (MSUD).

Entry Terms : "Maple Syrup Urine Disease (MSUD) Type IB Gene Mutation Detection Reagents" , "Acidemia Gene Mutation Detection Reagents" , "Organic Aciduria Gene Mutation Detection Reagents" , "Organic Acidemia Gene Mutation Detection Reagents" , "Aciduria Gene Mutation Detection Reagents" , "BCKDHB Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, BCKDHB"

UMDC code : 24313

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